Q&A: What Are The Basic Features Of Rett Syndrome? - Featured June 25, 2010

Rett Syndrome is a neurological/movement disorder which predominantly affects girls (approximately 1 in 10,000). Many attain developmental milestones from birth to age two or three, but then begin to regress. Others are slow to develop from birth. It affects all aspects of motor control. In addition, there are cardiac, respiratory, gastrointestinal and orthopedic concerns. Rett is considered a "full-spectrum" disorder with varying severity and phenotypes depending on the child's unique genetic makeup, specific mutation, and/or percentage of cells skewed to use the mutated vs. the healthy copy of the Rett gene.

Most girls have repetitive hand wringing and/or mouthing, although the age of onset varies. Another common symptom is disordered breathing to include hyperventilating, breath holding and shallow breathing. Teeth grinding is also prevalent.

It helps to move items you want them to attend to in order to recapture attention

Do not necessarily take non-response or frustration as a sign the child cannot do the activity. Often, these girls are bored and unmotivated at the cognitive level being presented.

Try not to "undershoot" the girls for example by putting them in repeated demand situations (look at …., point to…)

What kind of pace is beneficial?
It is important to break down tasks into very small steps and stretch out over a long period of time with a lot of repetition. Each step should provide an opportunity for success.
Example: Learning to use a light switch.

Stage One: Approach switch with child and verbally talk about the switch and turn it off for them.

*It is important to give enough time and wait for initiation of response from child. Sometimes their bodies are not able to react for 30-60 seconds or more. If they look toward the item accept that as communication and build on it.

What is the best environment to work in?

The ideal setting would be a quiet place with little distraction or sudden noise.

Incorporating a consistent mode of interactive communication for the activity

What do these children tend to enjoy?
Music, water, face-to-face contact, weight/pressure/massage, swinging, small group or one-on-one interaction with normal peers. People who are fun, funny, engaging, exciting, and those who wait for them and believe in them.

What generally causes stress in these children?

Not being able to communicate

Change / new things

Sudden noise

Physical pain from gas pains, air swallowing, constipation and other issues.

People who don’t talk to them like they are people

Remember: Avoid negative comments/commentary in their presence – they understand and will internalize the information.

What kind of communication can I expect/work towards with a child with Rett?
Many of the Rett patients have had success with the following:

Sensory: Weighted vest, weights for wrists and ankles, swing, music player

Other:

Arm braces to give hands a break from mouthing and wringing

Small bite-size snacks and water should be available throughout the day

Laminated materials

Slant board for easier reading

What would be helpful in writing their IEP goals?
Progression in their learning follows the same patterns as "normal" children, it is the timeline that is extended to a great degree.

What is the long-term prognosis?
While many patients with Rett Syndrome live into their 40s and 50s, they require total, 24-hour-a-day care. Ongoing therapy is critical to their well-being.

What is the research outlook?
Rett Syndrome is most often caused by a sporadic mutation in the MECP2 gene, causing underproduction or misproduction of a protein that plays a key role in turning on and off other genes. In 2007, researchers were able to reverse the symptoms of Rett in fully mature mice only days from death by reestablishing normal protein levels in the brain. It is possible that Rett Syndrome will be the first curable childhood neurological disorder.

This Month's Featured Author: Ingrid Harding

We thank Ingrid Harding for preparing this Q&A for our newsletter.

Ingrid Harding, certified teacher and mother of a daughter with Rett Syndrome, founded the nonprofit organization Girl Power 2 Cure, Inc.(http://www.girlpower2cure.org/) in May 2006. She wanted to find a way to engage young girls with their special needs peers after watching wonderful bonds form between her own daughter and her classmates in school.

Girl Power 2 Cure has been a successful mainstream avenue for raising awareness and research funds for Rett Syndrome. Since its founding, the group has engaged tens of thousands of supporters and volunteers around the country. Two main programs of GP2C are a "Girl Power" music therapy CD as well as a resource website for parents called RettGirl.org.

Ingrid has worked with dozens of therapists, met with countless physicians and attended many conferences and workshops on Rett Syndrome.

Ingrid is also the co-founder and a Trustee of the Rett Syndrome Research Trust, an organization focused solely on research towards treatments and a cure for Rett Syndrome.

Prior to Girl Power 2 Cure, Inc., Ingrid was CEO & Program Director for PlayhouseRadio.com, an Internet children’s music station.

Ingrid works from her home in Florida with her husband Peter, an internal medicine physician, and three children: Pierce (12), Sarah (9) and Gretchen (7).